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Facial dysmorphism, intellectual deficit, short stature and hearing loss
disorderSNOMED 699316006CUI C0796081
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased height of philtrum
Always present (100%)HP:0000322
Enlarged vertebral pedicles
Always present (100%)HP:0004621
Generalized muscle hypertrophy
Always present (100%)HP:0003720
Hunched back
Always present (100%)HP:0002808
Hypertonia
Always present (100%)HP:0001276
Hypoplastic iliac wing
Always present (100%)HP:0002866
Increased length of eyelashes
Always present (100%)HP:0000527
Increased lumbar lordosis
Always present (100%)HP:0002938
Keratosis pilaris
Always present (100%)HP:0032152
Limitation of joint mobility
Always present (100%)HP:0001376
shortened long tubular bones
Always present (100%)HP:0003026
Small earlobes
Always present (100%)HP:0000385
Small feet
Always present (100%)HP:0001773
Speech articulation difficulties
Always present (100%)HP:0009088
Thick, flared eyebrows
Always present (100%)HP:0002553
Thickened calvaria
Always present (100%)HP:0002684
Abnormal pubic bone morphology
Very frequent (80-99%)HP:0003172
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Decreased volume of upper lip
Very frequent (80-99%)HP:0000219
Flat midface
Very frequent (80-99%)HP:0011800
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Hypertrophic muscles
Very frequent (80-99%)HP:0003712
Hypertrophy of craniofacial bones
Very frequent (80-99%)HP:0004493
Hypoacusis
Very frequent (80-99%)HP:0000365
Increased size of mandible
Very frequent (80-99%)HP:0000303
Large iliac wings
Very frequent (80-99%)HP:0008818
Narrow eyelid opening
Very frequent (80-99%)HP:0045025
Narrow mouth
Very frequent (80-99%)HP:0000160
Related Conditions
Small stature(parent)
Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Developmental hereditary disorder(parent)
Congenital mixed conductive and sensorineural hearing loss(parent)
Genetic intellectual disability(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 699316006
- UMLS CUI
- C0796081
- Fully Specified Name
- Myhre syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.